ClinVar Miner

List of variants studied for Intellectual developmental disorder with cardiac defects and dysmorphic facies by Baylor Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014738.6(TMEM94):c.3601C>T (p.Arg1201Cys) rs370096925 0.00024
NM_014738.6(TMEM94):c.352C>T (p.Arg118Trp) rs563451589 0.00011
NM_014738.6(TMEM94):c.3458C>T (p.Thr1153Met) rs199789873 0.00007
NM_014738.6(TMEM94):c.1861G>A (p.Val621Met) rs374436256 0.00001
NM_014738.6(TMEM94):c.1066_1067delinsAA (p.Ser356Asn) rs2052051828
NM_014738.6(TMEM94):c.1544C>T (p.Ser515Phe) rs2052220799
NM_014738.6(TMEM94):c.2936C>A (p.Thr979Asn) rs1431981883
NM_014738.6(TMEM94):c.3740T>C (p.Ile1247Thr) rs2052988814
NM_014738.6(TMEM94):c.771C>G (p.Cys257Trp) rs115389161

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